What Is Zellweger Syndrome?
The Zellweger spectrum is a group of genetic disorders that are all considered different expressions of the same disease. Zellweger Syndrome is the most severe of these expressions, typically appearing in newborns with one of the twelve possible genetic mutations.
What Are the Symptoms?
The signs can be apparent as early as the first few hours of life. Such symptoms can include, but are not limited to:
- Poor muscle tone
- Feeding difficulties
- Liver cysts
- Vision loss
- Hearing loss
- Facial characteristics such as a flattened face, broad nasal bridge, and a high forehead
- Intellectual disability
- Widely spaced eyes
- Rapid, involuntary eye movement
- Abnormally large spleen and/or liver
How Do You Get Zellweger Syndrome?
This disease is inherited through an autosomal recessive pattern (both parents must be carriers and pass on the genetic mutation to their child). It can be caused by one of at least twelve different genes that are involved with the creation and function of peroxisomes (cells that help breakdown fatty acids and produce certain lipids). Mutations in these genes disrupt the creation and function of peroxisomes, which then affect how the nervous system functions. While this disorder can be caused by any of the twelve mutations, 70% of people with this disease carry the mutation in the PEX1 gene.
How Is Zellweger Syndrome Diagnosed?
Diagnosis of Zellweger typically begins a few hours after birth once the first signs are noticed (typically the distinctive facial features). Blood or urine tests are administered to confirm the diagnosis. Genetic testing can also be done to test for any of the twelve mutations.
Is There a Treatment?
While there is no cure currently, symptoms can be alleviated with certain therapies and medications.
Global Foundation for Peroxisomal Disorders
United Leukodystrophy Foundation